ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.1233T>C (p.Ser411=)

gnomAD frequency: 0.68551  dbSNP: rs910857
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244024 SCV000315219 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000244024 SCV000731904 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ser411Ser in exon 5 of SLC52A3: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 73.41% (6372/8680) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs910857).
GeneDx RCV000836069 SCV000977897 benign not provided 2018-06-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001516818 SCV001725169 benign Brown-Vialetto-van Laere syndrome 1 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544333 SCV001763352 benign Progressive bulbar palsy of childhood 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001516818 SCV001763353 benign Brown-Vialetto-van Laere syndrome 1 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000836069 SCV005315483 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000244024 SCV001926126 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000244024 SCV001963539 benign not specified no assertion criteria provided clinical testing

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